ClinVar Miner

List of variants in gene TTC8 reported as pathogenic for retinitis pigmentosa

Included ClinVar conditions (154):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_144596.4(TTC8):c.489G>A (p.Thr163=) rs119103286 0.00004
NM_144596.4(TTC8):c.265+1G>A rs139234943 0.00001
NM_144596.4(TTC8):c.115-2A>G rs587777809
NM_144596.4(TTC8):c.1343_1347+17del rs2141038703
NM_144596.4(TTC8):c.1347G>C (p.Gln449His) rs876661403
NM_144596.4(TTC8):c.256C>T (p.Gln86Ter)

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